No. | Chr | Position | Reference | Variant | EnsemblTranscriptID | EnsemblGeneID | Gene_Start | Gene_End | EnsemblProteinID | Gene | strand | Uniprot | cChange | pChange | Nature | dbSNP | Freq | EVS | phastCons | SIFT | Polyphen | HGMD | type | samples |
---|
1 | 13 | 31309703 | T | C | ENST00000380490 | ENSG00000132965 | 31309645 | 31338556 | ENSP00000369858 | ALOX5AP | 1 | AL5AP_HUMAN | - | - | 5'_UTR | rs78236471 | 0.0058 | C=0/T=8600;C=49/T=4357;C=49/T=12957 | - | - | - | - | het | 1 |
2 | 13 | 31309719 | C | T | ENST00000380490 | ENSG00000132965 | 31309645 | 31338556 | ENSP00000369858 | ALOX5AP | 1 | AL5AP_HUMAN | - | - | 5'_UTR | rs17245407 | 0.0959 | T=1/C=8599;T=437/C=3969;T=438/C=12568 | - | - | - | - | het | 7 |
3 | 13 | 31309784 | C | T | ENST00000380490 | ENSG00000132965 | 31309645 | 31338556 | ENSP00000369858 | ALOX5AP | 1 | AL5AP_HUMAN | c.42C>T | p.I14I | syn | rs11542984 | 0.01 | T=0/C=8600;T=57/C=4349;T=57/C=12949 | lod=127:487 | - | - | - | het | 1 |
4 | 13 | 31309817 | G | A | ENST00000380490 | ENSG00000132965 | 31309645 | 31338556 | ENSP00000369858 | ALOX5AP | 1 | AL5AP_HUMAN | - | - | +5bp 5'_splice_site | NA | - | - | lod=33:343 | - | - | - | het | 1 |
5 | 13 | 31309830 | C | A | ENST00000380490 | ENSG00000132965 | 31309645 | 31338556 | ENSP00000369858 | ALOX5AP | 1 | AL5AP_HUMAN | - | - | +18bp 5'_splice_site | rs4769055 | 0.6936 | A=2679/C=5921;A=3338/C=1068;A=6017/C=6989 | - | - | - | - | het | 373 |
6 | 13 | 31309830 | C | A | ENST00000380490 | ENSG00000132965 | 31309645 | 31338556 | ENSP00000369858 | ALOX5AP | 1 | AL5AP_HUMAN | - | - | +18bp 5'_splice_site | rs4769055 | 0.6936 | A=2679/C=5921;A=3338/C=1068;A=6017/C=6989 | - | - | - | - | hom | 132 |
7 | 13 | 31318249 | C | T | ENST00000380490 | ENSG00000132965 | 31309645 | 31338556 | ENSP00000369858 | ALOX5AP | 1 | AL5AP_HUMAN | c.123C>T | p.S41S | syn | rs41351946 | 0.00647 | T=56/C=8544;T=5/C=4401;T=61/C=12945 | lod=72:426 | - | - | - | het | 14 |
8 | 13 | 31318249 | C | T | ENST00000479597 | ENSG00000132965 | 31309645 | 31338556 | - | ALOX5AP | 1 | - | c.263C>T | p.A88V | non-syn | rs41351946 | 0.00647 | T=56/C=8544;T=5/C=4401;T=61/C=12945 | lod=72:426 | - | - | - | het | 14 |
9 | 13 | 31318308 | C | A | ENST00000380490 | ENSG00000132965 | 31309645 | 31338556 | ENSP00000369858 | ALOX5AP | 1 | AL5AP_HUMAN | - | - | +12bp 5'_splice_site | rs3803277 | 0.6244 | A=3820/C=4780;A=1932/C=2474;A=5752/C=7254 | - | - | - | - | het | 429 |
10 | 13 | 31318308 | C | A | ENST00000380490 | ENSG00000132965 | 31309645 | 31338556 | ENSP00000369858 | ALOX5AP | 1 | AL5AP_HUMAN | - | - | +12bp 5'_splice_site | rs3803277 | 0.6244 | A=3820/C=4780;A=1932/C=2474;A=5752/C=7254 | - | - | - | - | hom | 231 |
11 | 13 | 31318308 | C | A | ENST00000479597 | ENSG00000132965 | 31309645 | 31338556 | - | ALOX5AP | 1 | - | c.322C>A | p.P108T | non-syn | rs3803277 | 0.6244 | A=3820/C=4780;A=1932/C=2474;A=5752/C=7254 | - | - | - | - | het | 429 |
12 | 13 | 31318308 | C | A | ENST00000479597 | ENSG00000132965 | 31309645 | 31338556 | - | ALOX5AP | 1 | - | c.322C>A | p.P108T | non-syn | rs3803277 | 0.6244 | A=3820/C=4780;A=1932/C=2474;A=5752/C=7254 | - | - | - | - | hom | 231 |
13 | 13 | 31318344 | G | A | ENST00000479597 | ENSG00000132965 | 31309645 | 31338556 | - | ALOX5AP | 1 | - | c.358G>A | p.G120R | non-syn | rs201018097 | - | A=23/G=8577;A=6/G=4400;A=29/G=12977 | - | - | - | - | het | 1 |
14 | 13 | 31318401 | T | C | ENST00000479597 | ENSG00000132965 | 31309645 | 31338556 | - | ALOX5AP | 1 | - | c.415T>C | p.F139L | non-syn | rs3803278 | 0.3612 | - | - | - | - | - | het | 215 |
15 | 13 | 31318401 | T | C | ENST00000479597 | ENSG00000132965 | 31309645 | 31338556 | - | ALOX5AP | 1 | - | c.415T>C | p.F139L | non-syn | rs3803278 | 0.3612 | - | - | - | - | - | hom | 49 |
16 | 13 | 31338393 | C | T | ENST00000380490 | ENSG00000132965 | 31309645 | 31338556 | ENSP00000369858 | ALOX5AP | 1 | AL5AP_HUMAN | - | - | 3'_UTR | NA | - | - | lod=39:361 | - | - | - | het | 1 |
17 | 13 | 31338462 | A | G | ENST00000380490 | ENSG00000132965 | 31309645 | 31338556 | ENSP00000369858 | ALOX5AP | 1 | AL5AP_HUMAN | - | - | 3'_UTR | rs1132340 | 0.1225 | - | - | - | - | - | het | 86 |
18 | 13 | 31338462 | A | G | ENST00000380490 | ENSG00000132965 | 31309645 | 31338556 | ENSP00000369858 | ALOX5AP | 1 | AL5AP_HUMAN | - | - | 3'_UTR | rs1132340 | 0.1225 | - | - | - | - | - | hom | 3 |